Mutation Details for c.3022delG

cDNA Name c.3022delG 
Protein Name p.Val1008SerfsX15 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3154delG 
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient has R553X on the other chromosomes, a pancreatic deficiency and moderate lung disease. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, kaplan JC   1995-08-14
Institute Groupe Hospitalier Cochin, Paris 
Submitted Phenotype Details The mutation was found in a CF female patient (31y) diagnosed when 3 years old. She is PI, has mild pulmonary symptoms (FEV1 97%) and sweat chloride 122 mmol/l. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL #67) 

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The Database was last updated at Apr 25, 2011